METAP1mutation is a novel candidate for autosomal recessive intellectual disability
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Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springernature
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Intellectual disability (ID) is a genetic and clinically heterogenous common disease and
underlying molecular pathogenesis can frequently not be identified by whole- exome/genome
testing. Here, we report 4 siblings born to a consanguineous union who presented with intellectual
disability and discuss the METAP1 pathway as a novel etiology of ID. Genomic analyses
demonstrated that patients harbor a novel homozygous nonsense mutation in the gene METAP1.
METAP1 codes for methionine aminopeptidase 1 (MetAP1) which oversees the co-translational
excision of the first methionine remnants in eukaryotes. Loss of function mutations to this gene
may result in a defect in the translation of many essential proteins within a cell. Improper neuronal
function resulting from this loss of essential proteins could lead to neurologic impairment and ID.
Açıklama
WOS:000556668300001
PubMed ID32764695
PubMed ID32764695
Anahtar Kelimeler
METAP1mutation, Autosomal recessive
Kaynak
Journal of Human Genetics
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
66
Sayı
2
Künye
Caglayan, A.O., Aktar, F., Bilguvar, K., Baranoski, J.F., Akgümüş, G.T., Harmanci, A.S. ve diğerleri. (2021). METAP1mutation is a novel candidate for autosomal recessive intellectual disability. Journal of Human Genetics, 66(2), 215-218.
